Ghislaine Royer

Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla et al. · Human Mutation · 2013 · 86 citations

New Mutations, Genetics, Genomic Mechanism +17

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Marlène Rio, Valérie Malan, Sarah Boissel et al. · European Journal of Human Genetics · 2009 · 74 citations · Full text

Fmr1 Gene, Mendelian Disorder, Genetic Disorder +9

NDP gene mutations in 14 French families with Norrie disease

Ghislaine Royer, Sylvain Hanein, Val�rie Raclin et al. · Human Mutation · 2003 · 37 citations · Full text

Single cell quantification of the 8993T&gt;G NARP mitochondrial DNA mutation by fluorescent PCR

Nadine Gigarel, Pierre F. Ray, Philippe Burlet et al. · Molecular Genetics and Metabolism · 2004 · 34 citations

Dna Sequencing, Dna, Mitochondrial Function +11

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52

Stanislas Lyonnet, Anna Pelet, Ghislaine Royer et al. · Genomics · 1992 · 28 citations

Developmental Biology, Genetic Disorder, Genetics +7